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Semin Thromb Hemost 2003; 29(1): 005-010
DOI: 10.1055/s-2003-37934
Copyright © 2003 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

A Healthy Hemophilic Patient without Arthropathy: From Concept to Clinical Reality

Erik Berntorp1 , Jan J. Michiels2
  • 1Professor, Department of Coagulation Disorders, Lund University, Malmö University Hospital, Malmö, Sweden
  • 2Goodheart Institute and Foundation, Haemostasis and Thrombosis Science Center, Rotterdam, The Netherlands, and Hemostasis Thrombosis Research, Department of Hematology, University Hospital, Antwerp, Belgium
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Publication History

Publication Date:
17 March 2003 (online)

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ABSTRACT

Hemophilia is characterized by joint hemorrhage with subsequent development of arthropathy. During the past 40 to 50 years, factor VIII concentrates have been developed that enable effective treatment of bleeding. However, the development of dosing, including the implementation of prophylaxis, has been hampered by concentrate transmission of blood-borne diseases. Since the advent of viral reducing procedures that were applied to plasma-derived products and the implementation of recombinant DNA technology into the manufacturing procedure, concentrates can be considered as safe today, and hemophilic care can be more focused on the treatment modalities as such. Thus, prophylaxis is being improved and made available to more patients. Studies are in progress in order to give more scientific evidence behind its use. Magnetic resonance imaging (MRI) seems promising in scaling early arthropathy and may be a tool in the future, superior to plain X-ray and orthopedic examination, to follow patients on prophylaxis, especially children. The development of inhibitors is the most severe threat to the health of hemophiliacs today and in the future. Much has been done to elucidate genetic factors predisposing for inhibitors, and the reactivity of inhibitors with the factor VIII molecule has also been investigated. More has to be done, however, and there are still many open issues regarding immune tolerance treatment and treatment of acute bleeding in inhibitor patients. Hemophilic care has come far in order to restore health for the hemophilic population. The treatment is effective in the prevention of joint disease and the inhibitor problem is handled better now. Side effects have been reduced to a minimum. In addition, carrier and prenatal diagnosis add important contributions to improve life for the patient and his family. The next important step for the future is gene therapy, and early clinical studies are already in progress.

KEYWORD

Hemophilia - factor VIII - prophylaxis - inhibitor - gene therapy

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